WAPL, WAPL cohesin release factor, 23063

N. diseases: 8; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs182554582
rs182554582
10 86435202 downstream gene variant T/A snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs182554582
rs182554582
10 86435202 downstream gene variant T/A snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs3858281
rs3858281
10 86504258 intron variant G/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs7075426
rs7075426
1.000 0.040 10 86456645 intron variant G/A snv 0.48
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7075426
rs7075426
1.000 0.040 10 86456645 intron variant G/A snv 0.48
CUI: C0338480
Disease: Common Migraine
Common Migraine
Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11202058
rs11202058
0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs11202058
rs11202058
0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs11202058
rs11202058
0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs1471281484
rs1471281484
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs1471281484
rs1471281484
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs7083506
rs7083506
0.882 0.080 10 86439911 intron variant C/T snv 0.37
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs7083506
rs7083506
0.882 0.080 10 86439911 intron variant C/T snv 0.37
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs7083506
rs7083506
0.882 0.080 10 86439911 intron variant C/T snv 0.37
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015